As a child, Emily Jane O'Dell could do contortionist tricks with her limber limbs, and was primed to be a superhero as she enrolled in master ballet classes and a variety of sports. Her nimbleness was her winning gift that would propel her to greatness – a superhero – till one accident crushed it all.

It was a hit that turned a blessing into a curse. While riding her bicycle in Harlem, a bus hit her. And as she recovered, she began to uncover a saddening diagnosis of Ehlers-Danlos Syndrome (EDS) – a rare and incurable connective tissue disorder that can cause dislocating joints, rupturing organs, blindness, and even death from cardiac defects.

"I am elastic girl"

“I am elastic girl. I'm as stretchy as they come, but I'm coming undone. My joints keep dislocating. Tendons tearing, ligaments loosening. Even my voice box is leaping out of place. What's a girl with messed up glue to do?” she laments.

“Call me Humpty Dumpty for I am beyond repair. Though I am in need of a number of surgeries, surgeons do not dare to suture my widespread tears. The risk of cutting into my cursed cartilage and stitching up my slow-healing skin is too great. I bear many wounds that will never heal.”

Lacking the proper connective tissue to join her bones, Emily has found an alternative glue – a heart that connects to others suffering too.

“The more my body disassembles, the more I assemble with those whose worlds are falling apart. Children with cancer at St Jude's in Beirut, Syrians in refugee camps, and Sudanese refugees from Darfur.”

“Dozens of times in a day, my bones would slip from their sockets – my elbows when I swim, my fingers when I type, my shoulders when I open a door. I almost choked to death on my own voice box last summer when I was swimming backstroke and my larynx ripped out of place. Left in its wake – a paralysed vocal cord,” she recalls.

Rare disease with complicated consequences often mis- or under-diagnosed

Research by the Ehlers-Danlos Society, an international non-profit dedicated to raising awareness of the disease, shows that EDS may affect as few as 1 in 5,000 people, and it can manifest in several forms.

However, Bloom, the society’s co-executive director, says anecdotal and clinical evidence suggests it affects as many as 1 in 100, since many people are simply mis- or under-diagnosed.

The disease, ranging from mild to life-threatening, usually affects the skin, joints and blood vessel walls. Patients may have loose joints, fragile, small blood vessels, abnormal scar formation and wound healing, and soft, velvety, stretchy skin that bruises easily. It is incurable and treatment involves managing symptoms, often with medicines and physical therapy. It also includes learning how to protect the joints and prevent injuries.

The six major types of Ehlers-Danlos Syndrome are arthrochalasia, classic, dermatosparaxis, hypermobility, kyphoscoliosis and vascular. Though the area affected differs with each type of EDS, hypermobility is a common symptom which presents with an unusually large range of movement in the joints.

"Hypermobility is just a symptom, and when you tell someone they have EDS, unfortunately that leads to a lot of other problems," says Dr Brad Landry, a paediatric rehabilitation specialist at the Mayo Clinic in Rochester, Minnesota.

“For example, patients may assume they're at risk for fatal heart conditions that only affect people with a rare form of EDS or attribute all of their health issues to the condition rather than seeking more suitable care.”

EDS is, in most cases, an inherited condition, while a minority of cases may occur via spontaneous gene mutations.

Dr Peter Byers, a professor at the University of Washington School of Medicine in Seattle, notes that of the different forms of EDS, health care providers and scientists seem to know the least about the hypermobile variety, which is by far the most common.

“Almost all the others have genes associated with them,” he adds. While there may be a genetic component to hypermobile EDS, which tends to run in families, he feels that experts don't know precisely what it is.

Dr Byers explains that these experts also don't know which symptoms often seen in EDS patients – think joint pain, sensory problems, severe fatigue, low blood pressure and digestive issues – are due to the EDS itself, some other condition accompanying it, a third-party cause like a virus or a lack of proper management. He adds that simply labelling all people with hypermobility as EDS patients can make over-diagnosis as much of a problem as under- or misdiagnosis.”

While more professionals – from dentists and physical therapists to psychiatrists and gastroenterologists – are beginning to recognise EDS as a possible culprit of various medical and mental health issues, Dr Brad Tinkle, medical director of clinical genetics at Advocate Children's Hospital in the Chicago area, says, “The problem is [that awareness] is not translated into a lot of patients feeling like they're being heard and taken care of.”

Breaking new grounds and bridging boundaries

“I landed in a hospital in Turkmenistan a few years ago after my hips tore out of place while I was researching Sufism and shamanism on the border with Iran. "Eta elastichniya deyavooshka," the Soviet-trained doctors said in Russian – "This is an elastic girl.”

When given two choices by top hip surgeons in New York: she chose the motorised wheelchair and morphine instead of becoming mummified in a body cast for six months after a high-risk surgery.

“Back on my feet, I've taken my act on the road to hospitals in Lebanon, Oman, India, and Mongolia. I'm breaking new ground as a medical mutant in the Middle East and Asia, sharing what it's like to inhabit a body that challenges the authority of medicine and trespasses the conventional boundaries of pain,” says Emily.

Her biological mother abandoned her, leaving her with no familial blueprint for managing this illness. Despite once being in foster care and a failure-to-thrive baby, Emily was able to complete five Ivy League degrees and a Postdoctoral Fellowship at Harvard by the age of 30, with the help of disability accommodation.

“But outside the academy, I have learned that we have barely begun to make this world a safer and more just one for people with disabilities,” Emily shares.

She recalled an occasion when she had finished giving a workshop to the physical therapy department at Sultan Qaboos Hospital in Oman, a bewildered therapist popped the inevitable question, "So, how do you live?"

“I live now in awe of what the body can do, and amazed by how a soul can soldier on despite the body being so broken. Instead of merely being fixated on learning the grammar of languages like Mongolian and Kumzari, I'm now just as fascinated by the vocal cords that allow me to speak them.”

Emily who teaches at Sultan Qaboos University in the Sultanate of Oman, faces the bleak prospect of losing her sight. But she remains undaunted.

“Knowing that I could one day go blind, I've become grateful for the sense of sight. No longer dependent on my wheelchair, I'm cognisant of the miracle of each step. My sense of consciousness has been expanded by what I can't do. My sense of responsibility has been expanded by what I can.

“These days, I can't help but see my own brokenness and the brokenness of the world as one. Each one of us is vulnerable to becoming – at any given moment – disabled. We are all incurable, hurtling side-by-side to our inevitable end. Bones are like fixed boundaries; it is in the joints, the 'in-between,' where the real magic and movement happen. It is in the forging of unconventional connections across borders that the celebratory dance of life in the face of death and global healing begin,” she says.

Indeed, for Emily – even when all else falls apart – her dance of life stretches on. MIMS

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